V55L (p.Val55Leu) variant of ID3 (Q02535)
V55L (p.Val55Leu) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- TOPMed rs1272685807
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.50
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available